ABSTRACT
Modern humans appeared in Europe by at least 45,000 years ago1-5, but the extent of their interactions with Neanderthals, who disappeared by about 40,000 years ago6, and their relationship to the broader expansion of modern humans outside Africa are poorly understood. Here we present genome-wide data from three individuals dated to between 45,930 and 42,580 years ago from Bacho Kiro Cave, Bulgaria1,2. They are the earliest Late Pleistocene modern humans known to have been recovered in Europe so far, and were found in association with an Initial Upper Palaeolithic artefact assemblage. Unlike two previously studied individuals of similar ages from Romania7 and Siberia8 who did not contribute detectably to later populations, these individuals are more closely related to present-day and ancient populations in East Asia and the Americas than to later west Eurasian populations. This indicates that they belonged to a modern human migration into Europe that was not previously known from the genetic record, and provides evidence that there was at least some continuity between the earliest modern humans in Europe and later people in Eurasia. Moreover, we find that all three individuals had Neanderthal ancestors a few generations back in their family history, confirming that the first European modern humans mixed with Neanderthals and suggesting that such mixing could have been common.
Subject(s)
DNA, Ancient/analysis , Genome, Human/genetics , Neanderthals/genetics , Alleles , Americas/ethnology , Animals , Archaeology , Bulgaria/ethnology , Caves , Asia, Eastern/ethnology , Female , History, Ancient , Humans , Male , PhylogenyABSTRACT
SUMMARY: Bisulfite sequencing, a combination of bisulfite treatment and high-throughput sequencing, has proved to be a valuable method for measuring DNA methylation at single base resolution. Here, we present B-SOLANA, an approach for the analysis of two-base encoding (colorspace) bisulfite sequencing data on the SOLiD platform of Life Technologies. It includes the alignment of bisulfite sequences and the determination of methylation levels in CpG as well as non-CpG sequence contexts. B-SOLANA enables a fast and accurate analysis of large raw sequence datasets. AVAILABILITY AND IMPLEMENTATION: The source code, released under the GNU GPLv3 licence, is freely available at http://code.google.com/p/bsolana/. CONTACT: b.kreck@ikmb.uni-kiel.de SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Subject(s)
DNA Methylation , Sequence Analysis, DNA/methods , Software , Genome, Human , Genome-Wide Association Study , Humans , Sequence Alignment , SulfitesABSTRACT
STUDY DESIGN: This study is an experimental study in the rat osteopenia model. OBJECTIVE: The aim of this study was to evaluate the short-term effects of daily application of parathyroid hormone (PTH) on bone quality and quantity using a new biomechanical compression test for intact rat lumbar vertebrae. SUMMARY OF BACKGROUND DATA: Because of their high clinical relevance, trabecular content and thick cortical shell vertebrae are of high interest for osteoporosis research. Biomechanical stability depends on both trabecular and cortical bone. Anabolic effects on bone after long-term application of PTH have already been proven. METHODS: After an intraindividual comparison (n = 20), the capability of a new test to identify biomechanical properties of the mature rat model was assessed. In the following, 33 three-month-old rats were ovariectomized. After 10 weeks, the animals were divided into 3 groups. The control group (C) received no additional food supplementation. The other groups received hormone treatment with either estradiol (E) or PTH for another 5 weeks. The effects on bone biomechanical properties and bone microstructure were analyzed. RESULTS: After establishing the new biomechanical test for intact rat lumbar vertebrae, PTH-treated (yield stress: 2.95 N/mm, elastic limit: 2.39 N/mm) and then E-treated (yield stress: 2.13 N/mm, elastic limit: 1.68 N/mm) animals showed superior biomechanical results. Compression strength was significantly improved in these rats in comparison to the control group rats (yield stress: 1.86 N/mm, elastic limit: 1.38 N/mm). In the microradiographic evaluation, PTH significantly improved the morphologic results to produce thicker trabeculae. E led to a more densely branched trabecular network, which was not as important as trabecular thickness for bone stability. CONCLUSION: After a short-term application, PTH is superior to E in recreating bone biomechanical propertiesand lumbar vertebral microstructure in advanced osteoporosis. The cortical shell and trabecular thickness are primarily responsible for the biomechanical strength of vertebrae.